Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | X | 50439186 | intron variant | G/A | snv | 0.46 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
3 | 0.882 | 0.160 | 15 | 80424141 | intron variant | G/A | snv | 0.27 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 15 | 80426396 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | X | 50414986 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | X | 50436751 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 14 | 64236600 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
16 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | X | 7318929 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | X | 50400967 | intron variant | G/A;C | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | X | 50459752 | intron variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 15 | 80402288 | intron variant | C/T | snv | 4.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 3 | 119808929 | intron variant | T/C | snv | 0.90 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | X | 7300859 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | X | 50460404 | intron variant | A/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | X | 50380968 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | X | 50454263 | intron variant | G/T | snv | 0.46 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | X | 7239611 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | X | 7264242 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | X | 7294236 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | X | 7323041 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 16 | 55307223 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | X | 7297762 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 6 | 152055389 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 2 | 31573695 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | X | 50492002 | intergenic variant | G/A | snv | 0.39 | 0.030 | 1.000 | 3 | 2011 | 2019 |